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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Puberty, Precocious (D011629)
..Starting node ..Familial Testotoxicosis (C536961)
Child Nodes:
Sister Nodes:
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Familial Testotoxicosis (C536961)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty (C567168)
..Precocious Puberty, Central (C562787)
..Sexual precocity (C538542)
..Spastic paraplegia with precocious puberty (C536874)
..Spondylodysplasia And Premature Pubarche (C567552)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4173

Name:

Familial Testotoxicosis

Definition:

Alternative IDs:

OMIM:176410

ParentIDs:

MESH:D011629

TreeNumbers:

C19.391.693/C536961

Synonyms:

Slim Mappings:

Endocrine system disease

Reference:

MedGen: C536961
MeSH: C536961
OMIM: 176410;

Genes: LHCGR;

Phenotypes

1	HP:0001470	Sex-limited autosomal dominant
2	HP:0008734	Decreased testicular size
3	HP:0008185	Precocious puberty in males

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000233.3(LHCGR):c.1733A>G (p.Asp578Gly)	-1	-	Pathogenic	121912518	RCV000015461;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915203	48915203	NM_000233.3:c.1733A>G	NP_000224.2:p.Asp578Gly	NC_000002.11:g.48915203T>C	OMIM Allelic Variant:152790.0001	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1732G>T (p.Asp578Tyr)	-1	-	Likely pathogenic	121912532	RCV000030141;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915204	48915204	NM_000233.3:c.1732G>T	NP_000224.2:p.Asp578Tyr	NC_000002.11:g.48915204C>A,NC_000002.11:g.48915204C>G	-	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1730C>T (p.Thr577Ile)	-1	-	Pathogenic	121912521	RCV000015467;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915206	48915206	NM_000233.3:c.1730C>T	NP_000224.2:p.Thr577Ile	NC_000002.11:g.48915206G>A	OMIM Allelic Variant:152790.0005	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1715C>T (p.Ala572Val)	-1	-	Pathogenic	121912522	RCV000015468;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915221	48915221	NM_000233.3:c.1715C>T	NP_000224.2:p.Ala572Val	NC_000002.11:g.48915221G>A	OMIM Allelic Variant:152790.0006	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1713G>A (p.Met571Ile)	-1	-	Pathogenic	121912519	RCV000015462;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915223	48915223	NM_000233.3:c.1713G>A	NP_000224.2:p.Met571Ile	NC_000002.11:g.48915223C>T	OMIM Allelic Variant:152790.0002	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1703C>T (p.Ala568Val)	-1	-	Pathogenic	121912534	RCV000015488;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915233	48915233	NM_000233.3:c.1703C>T	NP_000224.2:p.Ala568Val	NC_000002.11:g.48915233G>A	OMIM Allelic Variant:152790.0023	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1691A>G (p.Asp564Gly)	-1	-	Pathogenic	121912540	RCV000015493;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915245	48915245	NM_000233.3:c.1691A>G	NP_000224.2:p.Asp564Gly	NC_000002.11:g.48915245T>C	OMIM Allelic Variant:152790.0029	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1624A>C (p.Ile542Leu)	-1	-	Pathogenic	121912531	RCV000015483;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915312	48915312	NM_000233.3:c.1624A>C	NP_000224.2:p.Ile542Leu	NC_000002.11:g.48915312T>G	OMIM Allelic Variant:152790.0018	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1370T>G (p.Leu457Arg)	-1	-	Pathogenic	121912535	RCV000015489;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915566	48915566	NM_000233.3:c.1370T>G	NP_000224.2:p.Leu457Arg	NC_000002.11:g.48915566A>C	OMIM Allelic Variant:152790.0024	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1193T>C (p.Met398Thr)	-1	-	Pathogenic	121912526	RCV000015473;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915743	48915743	NM_000233.3:c.1193T>C	NP_000224.2:p.Met398Thr	NC_000002.11:g.48915743A>G	OMIM Allelic Variant:152790.0010	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1118C>T (p.Ala373Val)	-1	-	Pathogenic	121912528	RCV000015476;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915818	48915818	NM_000233.3:c.1118C>T	NP_000224.2:p.Ala373Val	NC_000002.11:g.48915818G>A	OMIM Allelic Variant:152790.0013	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.1103T>C (p.Leu368Pro)	-1	-	Pathogenic	121912533	RCV000015487;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48915833	48915833	NM_000233.3:c.1103T>C	NP_000224.2:p.Leu368Pro	NC_000002.11:g.48915833A>G	OMIM Allelic Variant:152790.0022	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.605+52delT	-1	-	Uncertain significance	111834744	RCV000030143;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48941073	48941073	NM_000233.3:c.605+52delT		NC_000002.11:g.48941073delA	-	C0342549 176410 Gonadotropin-independent familial sexual precocity
NM_000233.3(LHCGR):c.458+3A>G	-1	-	Likely benign	76210637	RCV000030142;	N	MedGen:C0342549,OMIM:176410,ORPHA:3000,SNOMED CT:237818003	2	48950758	48950758	NM_000233.3:c.458+3A>G		NC_000002.11:g.48950758T>C	-	C0342549 176410 Gonadotropin-independent familial sexual precocity